A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
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ABSTRACT:
SUBMITTER: Crippa M
PROVIDER: S-EPMC7261755 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
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A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
Crippa Milena M Malatesta Paola P Bonati Maria Teresa MT Trapasso Francesco F Fortunato Francesco F Annesi Grazia G Larizza Lidia L Labate Angelo A Finelli Palma P Perrotti Nicola N Gambardella Antonio A
Annals of clinical and translational neurology 20200421 5
Three relatives carrying a t(4;8)(p15.2;p23.2) translocation had juvenile myoclonic epilepsy, self-limited photosensitive occipital epilepsy and migraine with aura. The t(4;8) translocation interrupted the coding sequence of CSMD1 gene and occurred immediately to the 3'UTR of STIM2 gene. STIM2 was overexpressed in the patient carrying the unbalanced translocation, and all three individuals had a single functional copy of CSMD1. Array CGH study disclosed that these three individuals also carried ...[more]
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